Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02019:Ascc3'

183909

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ascc3

Ensembl Gene

ENSMUSG00000038774

Gene Name

activating signal cointegrator 1 complex subunit 3

Synonyms

Helic1, B630009I04Rik, ASC1p200

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL02019

Quality Score

Status

Chromosome

Chromosomal Location

50468756-50727300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50566235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 727 (N727Y)

Ref Sequence

ENSEMBL: ENSMUSP00000036726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035606]

AlphaFold

E9PZJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000035606
AA Change: N727Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036726
Gene: ENSMUSG00000038774
AA Change: N727Y

Domain	Start	End	E-Value	Type
coiled coil region	55	79	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
coiled coil region	329	356	N/A	INTRINSIC
DEXDc	474	686	1.71e-29	SMART
AAA	492	674	8.15e-2	SMART
Blast:DEXDc	718	763	4e-18	BLAST
HELICc	770	858	6.01e-16	SMART
Sec63	979	1288	3.53e-111	SMART
DEXDc	1324	1528	8.88e-28	SMART
AAA	1342	1492	4.27e-1	SMART
HELICc	1605	1695	2.28e-16	SMART
Sec63	1813	2178	6.37e-118	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

All alleles(16) : Targeted(2) Gene trapped(14)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	C	T	5: 115,017,645 (GRCm39)	A178V	possibly damaging	Het
Acad11	A	G	9: 103,992,544 (GRCm39)	I495M	probably damaging	Het
Adgrd1	T	C	5: 129,192,202 (GRCm39)	S91P	probably benign	Het
Agk	A	G	6: 40,353,160 (GRCm39)	I175V	probably damaging	Het
Atrnl1	A	T	19: 57,680,195 (GRCm39)		probably benign	Het
B4galt3	G	A	1: 171,099,362 (GRCm39)	G42D	probably damaging	Het
Brd10	A	T	19: 29,694,463 (GRCm39)	S976T	probably benign	Het
Brip1	C	T	11: 86,088,775 (GRCm39)	C42Y	possibly damaging	Het
Camkk1	T	C	11: 72,928,027 (GRCm39)	F233L	probably damaging	Het
Cd300ld	A	T	11: 114,878,227 (GRCm39)	M95K	probably damaging	Het
Cdv3	A	G	9: 103,237,224 (GRCm39)		probably benign	Het
Cog3	G	T	14: 75,968,044 (GRCm39)	Q430K	possibly damaging	Het
D6Wsu163e	G	A	6: 126,932,184 (GRCm39)	G308S	probably damaging	Het
Dnah2	A	G	11: 69,365,111 (GRCm39)	M1951T	probably damaging	Het
Elavl3	G	A	9: 21,948,014 (GRCm39)	T51I	probably damaging	Het
Eri2	A	T	7: 119,385,303 (GRCm39)	C399*	probably null	Het
Ezh2	A	T	6: 47,528,835 (GRCm39)		probably null	Het
Fgd6	C	A	10: 93,969,216 (GRCm39)	T1161K	probably damaging	Het
Gbf1	A	T	19: 46,267,731 (GRCm39)	H1193L	possibly damaging	Het
Gbp2b	T	A	3: 142,312,751 (GRCm39)	F378Y	possibly damaging	Het
Hectd2	G	A	19: 36,592,916 (GRCm39)	V694M	possibly damaging	Het
Hook1	T	A	4: 95,910,434 (GRCm39)	S683T	probably benign	Het
Ifi202b	G	A	1: 173,802,550 (GRCm39)	R95C	possibly damaging	Het
Kdm8	G	T	7: 125,051,658 (GRCm39)	V84L	probably damaging	Het
Kifc3	G	A	8: 95,834,168 (GRCm39)		probably benign	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lrig1	G	T	6: 94,593,410 (GRCm39)	Q424K	probably damaging	Het
Lrriq1	A	T	10: 103,014,661 (GRCm39)	M1049K	probably benign	Het
Mcidas	A	G	13: 113,133,377 (GRCm39)	N103D	probably benign	Het
Mdn1	T	C	4: 32,749,948 (GRCm39)	L4377S	possibly damaging	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Mug2	G	A	6: 122,024,394 (GRCm39)	V489I	probably benign	Het
P2rx5	G	T	11: 73,058,803 (GRCm39)		probably benign	Het
Pfas	A	T	11: 68,884,289 (GRCm39)		probably benign	Het
Pknox2	A	G	9: 36,834,929 (GRCm39)	L180P	probably damaging	Het
Psmd5	C	A	2: 34,744,286 (GRCm39)	C412F	probably benign	Het
Rbks	T	A	5: 31,817,361 (GRCm39)	D136V	probably damaging	Het
Rgl1	A	G	1: 152,404,220 (GRCm39)		probably benign	Het
Scube3	A	G	17: 28,386,658 (GRCm39)	D721G	probably damaging	Het
Snrnp200	T	A	2: 127,074,825 (GRCm39)	V1466D	possibly damaging	Het
Stambp	A	T	6: 83,529,013 (GRCm39)	L344Q	probably damaging	Het
Tctn1	A	T	5: 122,396,912 (GRCm39)	I157N	probably damaging	Het
Top2b	T	A	14: 16,409,965 (GRCm38)	D877E	probably benign	Het
Vmn1r78	G	A	7: 11,886,634 (GRCm39)	G82S	probably damaging	Het
Vnn1	T	C	10: 23,779,449 (GRCm39)	F453L	possibly damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het

Other mutations in Ascc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Ascc3	APN	10	50,590,531 (GRCm39)	missense	probably damaging	0.99
IGL00690:Ascc3	APN	10	50,576,039 (GRCm39)	nonsense	probably null
IGL00897:Ascc3	APN	10	50,604,187 (GRCm39)	missense	probably benign	0.01
IGL01077:Ascc3	APN	10	50,525,413 (GRCm39)	splice site	probably benign
IGL01124:Ascc3	APN	10	50,608,569 (GRCm39)	missense	probably damaging	1.00
IGL01555:Ascc3	APN	10	50,626,618 (GRCm39)	missense	probably damaging	1.00
IGL02161:Ascc3	APN	10	50,726,623 (GRCm39)	nonsense	probably null
IGL02247:Ascc3	APN	10	50,526,686 (GRCm39)	missense	probably damaging	1.00
IGL02318:Ascc3	APN	10	50,604,250 (GRCm39)	nonsense	probably null
IGL02428:Ascc3	APN	10	50,721,791 (GRCm39)	nonsense	probably null
IGL02432:Ascc3	APN	10	50,576,589 (GRCm39)	missense	probably damaging	0.99
IGL02449:Ascc3	APN	10	50,576,695 (GRCm39)	missense	probably benign	0.00
IGL02640:Ascc3	APN	10	50,643,470 (GRCm39)	missense	possibly damaging	0.69
IGL02673:Ascc3	APN	10	50,536,769 (GRCm39)	missense	probably benign	0.01
IGL03144:Ascc3	APN	10	50,643,539 (GRCm39)	missense	probably benign	0.16
IGL03161:Ascc3	APN	10	50,494,168 (GRCm39)	missense	probably damaging	0.98
IGL03218:Ascc3	APN	10	50,699,949 (GRCm39)	missense	possibly damaging	0.89
algorithm	UTSW	10	50,594,472 (GRCm39)	missense	probably damaging	0.97
heuristic	UTSW	10	50,718,289 (GRCm39)	missense	probably damaging	0.99
network	UTSW	10	50,630,175 (GRCm39)	missense	possibly damaging	0.53
R0045:Ascc3	UTSW	10	50,594,498 (GRCm39)	nonsense	probably null
R0045:Ascc3	UTSW	10	50,594,498 (GRCm39)	nonsense	probably null
R0131:Ascc3	UTSW	10	50,611,425 (GRCm39)	missense	probably damaging	0.99
R0131:Ascc3	UTSW	10	50,611,425 (GRCm39)	missense	probably damaging	0.99
R0132:Ascc3	UTSW	10	50,611,425 (GRCm39)	missense	probably damaging	0.99
R0149:Ascc3	UTSW	10	50,484,089 (GRCm39)	missense	probably benign	0.31
R0165:Ascc3	UTSW	10	50,718,223 (GRCm39)	splice site	probably null
R0255:Ascc3	UTSW	10	50,521,154 (GRCm39)	missense	probably benign	0.00
R0310:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0314:Ascc3	UTSW	10	50,514,095 (GRCm39)	missense	possibly damaging	0.92
R0362:Ascc3	UTSW	10	50,625,051 (GRCm39)	splice site	probably benign
R0418:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0419:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0421:Ascc3	UTSW	10	50,625,022 (GRCm39)	missense	probably benign	0.02
R0480:Ascc3	UTSW	10	50,611,348 (GRCm39)	missense	probably damaging	1.00
R0744:Ascc3	UTSW	10	50,721,762 (GRCm39)	missense	probably benign	0.17
R0833:Ascc3	UTSW	10	50,721,762 (GRCm39)	missense	probably benign	0.17
R1231:Ascc3	UTSW	10	50,699,756 (GRCm39)	missense	probably damaging	1.00
R1264:Ascc3	UTSW	10	50,518,615 (GRCm39)	splice site	probably benign
R1302:Ascc3	UTSW	10	50,480,890 (GRCm39)	start codon destroyed	probably null	1.00
R1751:Ascc3	UTSW	10	50,594,472 (GRCm39)	missense	probably damaging	0.97
R1767:Ascc3	UTSW	10	50,594,472 (GRCm39)	missense	probably damaging	0.97
R1769:Ascc3	UTSW	10	50,576,586 (GRCm39)	missense	probably damaging	1.00
R1840:Ascc3	UTSW	10	50,566,257 (GRCm39)	missense	probably benign	0.00
R1855:Ascc3	UTSW	10	50,494,018 (GRCm39)	missense	probably benign	0.01
R1953:Ascc3	UTSW	10	50,721,726 (GRCm39)	missense	probably benign
R1976:Ascc3	UTSW	10	50,525,262 (GRCm39)	missense	probably damaging	1.00
R2004:Ascc3	UTSW	10	50,493,838 (GRCm39)	missense	probably damaging	1.00
R2013:Ascc3	UTSW	10	50,525,908 (GRCm39)	missense	probably damaging	0.99
R2017:Ascc3	UTSW	10	50,566,307 (GRCm39)	missense	probably benign	0.00
R2040:Ascc3	UTSW	10	50,604,227 (GRCm39)	missense	probably benign
R2043:Ascc3	UTSW	10	50,576,616 (GRCm39)	missense	probably damaging	1.00
R2165:Ascc3	UTSW	10	50,597,935 (GRCm39)	missense	probably damaging	1.00
R2226:Ascc3	UTSW	10	50,630,148 (GRCm39)	missense	probably benign	0.07
R2310:Ascc3	UTSW	10	50,624,988 (GRCm39)	missense	probably benign	0.15
R2405:Ascc3	UTSW	10	50,607,774 (GRCm39)	missense	probably damaging	1.00
R2424:Ascc3	UTSW	10	50,494,297 (GRCm39)	missense	probably benign	0.14
R3410:Ascc3	UTSW	10	50,576,196 (GRCm39)	missense	probably damaging	1.00
R3617:Ascc3	UTSW	10	50,494,281 (GRCm39)	missense	probably benign	0.00
R3771:Ascc3	UTSW	10	50,596,814 (GRCm39)	splice site	probably benign
R3783:Ascc3	UTSW	10	50,604,350 (GRCm39)	missense	probably damaging	1.00
R3891:Ascc3	UTSW	10	50,718,289 (GRCm39)	missense	probably damaging	0.99
R3892:Ascc3	UTSW	10	50,718,289 (GRCm39)	missense	probably damaging	0.99
R4435:Ascc3	UTSW	10	50,597,981 (GRCm39)	missense	probably benign	0.14
R4509:Ascc3	UTSW	10	50,718,339 (GRCm39)	missense	probably benign	0.00
R4520:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4521:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4522:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4524:Ascc3	UTSW	10	50,536,766 (GRCm39)	missense	probably benign
R4581:Ascc3	UTSW	10	50,587,121 (GRCm39)	missense	probably damaging	1.00
R4701:Ascc3	UTSW	10	50,596,760 (GRCm39)	missense	possibly damaging	0.66
R4704:Ascc3	UTSW	10	50,535,110 (GRCm39)	missense	probably benign	0.02
R4768:Ascc3	UTSW	10	50,576,595 (GRCm39)	missense	probably damaging	1.00
R4823:Ascc3	UTSW	10	50,589,329 (GRCm39)	missense	probably damaging	1.00
R4906:Ascc3	UTSW	10	50,625,227 (GRCm39)	missense	probably damaging	1.00
R4937:Ascc3	UTSW	10	50,699,894 (GRCm39)	missense	probably damaging	1.00
R5001:Ascc3	UTSW	10	50,699,744 (GRCm39)	missense	probably damaging	1.00
R5151:Ascc3	UTSW	10	50,514,059 (GRCm39)	missense	probably damaging	0.99
R5263:Ascc3	UTSW	10	50,592,757 (GRCm39)	missense	probably benign	0.00
R5302:Ascc3	UTSW	10	50,583,873 (GRCm39)	missense	probably benign	0.09
R5436:Ascc3	UTSW	10	50,535,079 (GRCm39)	missense	probably damaging	0.99
R5455:Ascc3	UTSW	10	50,725,679 (GRCm39)	missense	probably benign	0.06
R5474:Ascc3	UTSW	10	50,725,634 (GRCm39)	missense	probably benign	0.25
R5744:Ascc3	UTSW	10	50,586,977 (GRCm39)	missense	probably benign
R5781:Ascc3	UTSW	10	50,514,074 (GRCm39)	missense	probably damaging	1.00
R5850:Ascc3	UTSW	10	50,587,049 (GRCm39)	missense	probably damaging	1.00
R5867:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R5868:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R5869:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6031:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6031:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6032:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6032:Ascc3	UTSW	10	50,718,279 (GRCm39)	nonsense	probably null
R6109:Ascc3	UTSW	10	50,525,343 (GRCm39)	missense	probably benign	0.37
R6122:Ascc3	UTSW	10	50,494,021 (GRCm39)	missense	probably benign
R6128:Ascc3	UTSW	10	50,526,734 (GRCm39)	missense	probably damaging	1.00
R6351:Ascc3	UTSW	10	50,596,769 (GRCm39)	missense	probably damaging	0.99
R6368:Ascc3	UTSW	10	50,576,081 (GRCm39)	missense	probably damaging	1.00
R6369:Ascc3	UTSW	10	50,576,081 (GRCm39)	missense	probably damaging	1.00
R6409:Ascc3	UTSW	10	50,721,676 (GRCm39)	missense	probably benign	0.09
R6472:Ascc3	UTSW	10	50,596,783 (GRCm39)	missense	probably benign	0.03
R6474:Ascc3	UTSW	10	50,624,932 (GRCm39)	missense	probably benign	0.01
R6480:Ascc3	UTSW	10	50,587,049 (GRCm39)	missense	probably damaging	1.00
R6553:Ascc3	UTSW	10	50,718,273 (GRCm39)	missense	probably benign	0.05
R6572:Ascc3	UTSW	10	50,566,343 (GRCm39)	nonsense	probably null
R6585:Ascc3	UTSW	10	50,718,273 (GRCm39)	missense	probably benign	0.05
R6656:Ascc3	UTSW	10	50,526,021 (GRCm39)	nonsense	probably null
R6669:Ascc3	UTSW	10	50,716,469 (GRCm39)	missense	probably benign
R6675:Ascc3	UTSW	10	50,626,659 (GRCm39)	nonsense	probably null
R6790:Ascc3	UTSW	10	50,521,808 (GRCm39)	missense	probably damaging	1.00
R6856:Ascc3	UTSW	10	50,625,158 (GRCm39)	missense	probably damaging	1.00
R6862:Ascc3	UTSW	10	50,725,742 (GRCm39)	missense	probably null	0.51
R6919:Ascc3	UTSW	10	50,521,849 (GRCm39)	nonsense	probably null
R6936:Ascc3	UTSW	10	50,606,057 (GRCm39)	missense	probably damaging	0.98
R6953:Ascc3	UTSW	10	50,521,762 (GRCm39)	missense	probably benign	0.00
R6957:Ascc3	UTSW	10	50,604,278 (GRCm39)	missense	probably damaging	1.00
R7022:Ascc3	UTSW	10	50,592,725 (GRCm39)	missense	possibly damaging	0.55
R7050:Ascc3	UTSW	10	50,716,446 (GRCm39)	missense	probably benign	0.43
R7358:Ascc3	UTSW	10	50,590,448 (GRCm39)	nonsense	probably null
R7479:Ascc3	UTSW	10	50,525,895 (GRCm39)	missense	probably damaging	1.00
R7538:Ascc3	UTSW	10	50,721,796 (GRCm39)	missense	probably damaging	1.00
R7838:Ascc3	UTSW	10	50,604,393 (GRCm39)	missense	probably benign	0.04
R8021:Ascc3	UTSW	10	50,607,744 (GRCm39)	missense	probably benign	0.02
R8134:Ascc3	UTSW	10	50,643,554 (GRCm39)	missense	probably benign	0.02
R8252:Ascc3	UTSW	10	50,518,706 (GRCm39)	missense	probably benign
R8348:Ascc3	UTSW	10	50,494,173 (GRCm39)	missense	probably benign
R8351:Ascc3	UTSW	10	50,725,693 (GRCm39)	missense	probably benign
R8356:Ascc3	UTSW	10	50,526,003 (GRCm39)	missense	probably benign	0.38
R8362:Ascc3	UTSW	10	50,518,692 (GRCm39)	missense	possibly damaging	0.93
R8395:Ascc3	UTSW	10	50,525,400 (GRCm39)	missense	possibly damaging	0.93
R8448:Ascc3	UTSW	10	50,494,173 (GRCm39)	missense	probably benign
R8957:Ascc3	UTSW	10	50,576,208 (GRCm39)	missense	probably damaging	1.00
R9004:Ascc3	UTSW	10	50,718,276 (GRCm39)	missense	probably benign
R9133:Ascc3	UTSW	10	50,630,175 (GRCm39)	missense	possibly damaging	0.53
R9200:Ascc3	UTSW	10	50,521,787 (GRCm39)	missense	possibly damaging	0.55
R9328:Ascc3	UTSW	10	50,535,015 (GRCm39)	missense	probably damaging	1.00
R9377:Ascc3	UTSW	10	50,608,858 (GRCm39)	missense	possibly damaging	0.62
R9412:Ascc3	UTSW	10	50,525,230 (GRCm39)	missense	probably benign	0.00
R9576:Ascc3	UTSW	10	50,494,254 (GRCm39)	missense	possibly damaging	0.71
R9796:Ascc3	UTSW	10	50,608,801 (GRCm39)	nonsense	probably null
X0021:Ascc3	UTSW	10	50,576,686 (GRCm39)	missense	possibly damaging	0.88
X0025:Ascc3	UTSW	10	50,526,692 (GRCm39)	missense	probably benign	0.00
X0026:Ascc3	UTSW	10	50,608,574 (GRCm39)	missense	probably damaging	1.00
Z1177:Ascc3	UTSW	10	50,594,517 (GRCm39)	missense	probably benign

Posted On

2014-05-07